A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies-Reference-Cited by-同舟云学术

A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies

Published:2015-09-30 Issue:1 Volume:170 Page:202-209
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Balay Lara¹,Totten Ellen²,Okada Luna³,Zell Sidney⁴,Ticho Benjamin⁴,Israel Jeannette⁴,Kogan Jillene²⁵

Affiliation:

1. Center for Genetic Medicine; Northwestern University; Chicago Illinois

2. Advocate Medical Group Genetics; Park Ridge Illinois

3. St. Alexius Medical Center; Hoffman Estates Illinois

4. Advocate Children's Hospital; Oak Lawn Illinois

5. Department of Cytogenetics; ACL Laboratories; Rosemont Illinois

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37388/fullpdf

Reference15 articles.

1. 11p microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: A case report;Almind;Mol Cytogenet,2009

2. A novel heterozygous deletion within the 3′ region of the PAX6 gene causing isolated aniridia in a large family group;Bayrakli;J Clin Neurosci,2009

3. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family;Cheng;Mol Vis,2011

4. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia;Crolla;Am J Hum Genet,2002

5. A deletion 3′ to the PAX6 gene in familial aniridia cases;D'Elia;Mol Vis,2007

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